ClinVar for Gene (Select 23118) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369386	NM_001292034.3(TAB2):c.941T>C (p.Ile314Thr)	LOC126859827, TAB2 (I282T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368828	NM_001292034.3(TAB2):c.542T>G (p.Leu181Ter)	TAB2 (L149* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3364053	NM_001292034.3(TAB2):c.440G>A (p.Gly147Asp)	TAB2 (G115D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361697	NM_001292034.3(TAB2):c.507A>T (p.Gln169His)	TAB2 (Q137H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359038	NM_001292034.3(TAB2):c.2050T>C (p.Cys684Arg)	TAB2 (C652R +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 2	GUncertain significance
Select item 3357774	NM_001292034.3(TAB2):c.1720C>T (p.Arg574Ter)	TAB2 (R542* +1 more)	Single nucleotide variant (nonsense)	TAB2-related disorder	GLikely pathogenic
Select item 3353255	NM_001292034.3(TAB2):c.1163A>G (p.Tyr388Cys)	LOC126859827, TAB2 (Y356C +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 3336981	NM_001292034.3(TAB2):c.312_313insAG (p.His105fs)	TAB2 (H105fs +1 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 3324152	NM_001292034.3(TAB2):c.1186G>A (p.Gly396Arg)	LOC126859827, TAB2 (G364R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324151	NM_001292034.3(TAB2):c.1105A>G (p.Ile369Val)	LOC126859827, TAB2 (I337V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324150	NM_001292034.3(TAB2):c.391G>A (p.Ala131Thr)	TAB2 (A131T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324149	NM_001292034.3(TAB2):c.1977C>A (p.Asp659Glu)	TAB2 (D627E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255073	NM_001292034.3(TAB2):c.1813_1814delinsC (p.Asp605fs)	TAB2 (D573fs +1 more)	Indel (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 3255071	NM_001292034.3(TAB2):c.363_364insGTTA (p.Phe122fs)	TAB2 (F122fs +1 more)	Insertion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 3254807	NM_001292034.3(TAB2):c.379C>T (p.Gln127Ter)	TAB2 (Q127* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 3253321	NM_001292034.3(TAB2):c.508C>T (p.Gln170Ter)	TAB2 (Q138* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3246224	NC_000006.11:g.(?_149691134)_(149700674_?)del	TAB2	Deletion	not provided	GPathogenic
Select item 3173217	NM_001292034.3(TAB2):c.935A>G (p.Tyr312Cys)	LOC126859827, TAB2 (Y312C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173216	NM_001292034.3(TAB2):c.772A>G (p.Thr258Ala)	LOC126859827, TAB2 (T258A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173214	NM_001292034.3(TAB2):c.550A>G (p.Asn184Asp)	TAB2 (N152D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173213	NM_001292034.3(TAB2):c.288G>C (p.Arg96Ser)	TAB2 (R64S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173212	NM_001292034.3(TAB2):c.214C>T (p.Arg72Cys)	TAB2 (R40C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173210	NM_001292034.3(TAB2):c.1744T>C (p.Ser582Pro)	TAB2 (S582P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173209	NM_001292034.3(TAB2):c.1499C>T (p.Thr500Ile)	LOC126859827, TAB2 (T500I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173208	NM_001292034.3(TAB2):c.119A>T (p.Asp40Val)	TAB2 (D40V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172109	NM_001002255.2(SUMO4):c.206G>C (p.Gly69Ala)	SUMO4, TAB2 (G69A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172108	NM_001002255.2(SUMO4):c.102T>G (p.Ile34Met)	SUMO4, TAB2 (I34M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068516	NM_001292034.3(TAB2):c.1020_1021del (p.Lys340fs)	LOC126859827, TAB2 (K308fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 3067497	NM_001002255.2(SUMO4):c.168G>A (p.Lys56=)	SUMO4, TAB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3064559	NM_001292034.3(TAB2):c.1739C>A (p.Ser580Ter)	TAB2 (S548* +1 more)	Single nucleotide variant (nonsense)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3058316	NM_001292034.3(TAB2):c.919T>A (p.Ser307Thr)	LOC126859827, TAB2 (S275T +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 3030594	NM_001292034.3(TAB2):c.1764+8_1764+9insAT	TAB2	Insertion (intron variant)	TAB2-related disorder	GLikely benign
Select item 3030535	NM_001292034.3(TAB2):c.629G>A (p.Gly210Glu)	TAB2 (G178E +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 3024330	NM_001292034.3(TAB2):c.1591_1593delinsTTTT (p.Ala531fs)	LOC126859827, TAB2 (A499fs +1 more)	Indel (frameshift variant)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 3022047	NM_001292034.3(TAB2):c.713A>G (p.Gln238Arg)	LOC126859827, TAB2 (Q238R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021929	NM_001292034.3(TAB2):c.1468CTT[1] (p.Leu491del)	LOC126859827, TAB2 (L459del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3012213	NM_001292034.3(TAB2):c.1465A>G (p.Asn489Asp)	LOC126859827, TAB2 (N457D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009495	NM_001292034.3(TAB2):c.722C>A (p.Pro241His)	LOC126859827, TAB2 (P241H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007363	NM_001292034.3(TAB2):c.1115G>A (p.Ser372Asn)	LOC126859827, TAB2 (S372N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007119	NM_001292034.3(TAB2):c.1643A>G (p.Gln548Arg)	TAB2 (Q516R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006848	NM_001292034.3(TAB2):c.207T>C (p.Ser69=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001874	NM_001292034.3(TAB2):c.1603+17A>G	LOC126859827, TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996547	NM_001292034.3(TAB2):c.1861C>G (p.Pro621Ala)	TAB2 (P621A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993645	NM_001292034.3(TAB2):c.1040G>A (p.Arg347Gln)	LOC126859827, TAB2 (R315Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991910	NM_001292034.3(TAB2):c.690A>G (p.Gln230=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985232	NM_001292034.3(TAB2):c.1940-16T>G	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983470	NM_001292034.3(TAB2):c.577A>G (p.Thr193Ala)	TAB2 (T161A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981698	NM_001292034.3(TAB2):c.1860A>G (p.Gly620=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979772	NM_001292034.3(TAB2):c.462T>G (p.His154Gln)	TAB2 (H122Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2976664	NM_001292034.3(TAB2):c.871A>G (p.Thr291Ala)	LOC126859827, TAB2 (T291A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976031	NM_001292034.3(TAB2):c.18C>T (p.His6=)	TAB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971353	NM_001292034.3(TAB2):c.1355G>T (p.Arg452Leu)	LOC126859827, TAB2 (R420L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970595	NM_001292034.3(TAB2):c.103-12T>C	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961991	NM_001292034.3(TAB2):c.1939+19T>C	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957697	NM_001292034.3(TAB2):c.102+10del	TAB2	Deletion (intron variant)	not provided	GLikely benign
Select item 2957187	NM_001292034.3(TAB2):c.474C>T (p.His158=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956478	NM_001292034.3(TAB2):c.138C>T (p.Leu46=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898468	NM_001292034.3(TAB2):c.1768GAA[1] (p.Glu591del)	TAB2 (E559del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2891002	NM_001292034.3(TAB2):c.166G>A (p.Gly56Ser)	TAB2 (G56S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886521	NM_001292034.3(TAB2):c.333A>G (p.Gln111=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882350	NM_001292034.3(TAB2):c.565C>T (p.Arg189Cys)	TAB2 (R189C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875759	NM_001292034.3(TAB2):c.1043C>T (p.Thr348Ile)	LOC126859827, TAB2 (T316I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875012	NM_001292034.3(TAB2):c.1493T>C (p.Val498Ala)	LOC126859827, TAB2 (V466A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867936	NM_001292034.3(TAB2):c.779C>T (p.Pro260Leu)	LOC126859827, TAB2 (P228L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2862721	NM_001292034.3(TAB2):c.500T>A (p.Leu167His)	TAB2 (L135H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827939	NM_001292034.3(TAB2):c.1437G>T (p.Gly479=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823906	NM_001292034.3(TAB2):c.355A>T (p.Ser119Cys)	TAB2 (S119C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814620	NM_001292034.3(TAB2):c.1119C>T (p.Pro373=)	LOC126859827, TAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803951	NM_001292034.3(TAB2):c.1165A>C (p.Ile389Leu)	LOC126859827, TAB2 (I389L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2794290	NM_001292034.3(TAB2):c.1858+20T>C	TAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792264	NM_001292034.3(TAB2):c.2006A>C (p.Asn669Thr)	TAB2 (N669T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756093	NM_001292034.3(TAB2):c.89G>A (p.Arg30Lys)	TAB2 (R30K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2749532	NM_001292034.3(TAB2):c.355A>G (p.Ser119Gly)	TAB2 (S119G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745241	NM_001292034.3(TAB2):c.2060G>A (p.Cys687Tyr)	TAB2 (C655Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709995	NM_001292034.3(TAB2):c.1267T>A (p.Ser423Thr)	LOC126859827, TAB2 (S423T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703535	NM_001292034.3(TAB2):c.872C>G (p.Thr291Ser)	LOC126859827, TAB2 (T291S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662869	NM_001292034.3(TAB2):c.297A>G (p.Gly99=)	TAB2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2662697	NM_001292034.3(TAB2):c.50G>A (p.Arg17Gln)	TAB2 (R17Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662135	NM_001292034.3(TAB2):c.1205G>A (p.Arg402Gln)	LOC126859827, TAB2 (R370Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661999	NM_001292034.3(TAB2):c.902C>G (p.Ser301Cys)	LOC126859827, TAB2 (S269C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656989	NM_001002255.2(SUMO4):c.2T>C (p.Met1Thr)	SUMO4, TAB2 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2636950	NM_001292034.3(TAB2):c.508C>A (p.Gln170Lys)	TAB2 (Q138K +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 2632639	NM_001292034.3(TAB2):c.2050T>A (p.Cys684Ser)	TAB2 (C652S +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 2631202	NM_001292034.3(TAB2):c.80_84delinsAGG (p.Val27fs)	TAB2 (V27fs)	Indel (frameshift variant +1 more)	TAB2-related disorder	GLikely pathogenic
Select item 2630221	NM_001292034.3(TAB2):c.1115G>C (p.Ser372Thr)	LOC126859827, TAB2 (S340T +1 more)	Single nucleotide variant (missense variant)	TAB2-related disorder	GUncertain significance
Select item 2628577	NM_001292034.3(TAB2):c.1487A>G (p.His496Arg)	LOC126859827, TAB2 (H464R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2627254	NM_001292034.3(TAB2):c.1547_1551del (p.Arg516fs)	LOC126859827, TAB2 (R484fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 2627070	NM_001292034.3(TAB2):c.1522del (p.Asp508fs)	LOC126859827, TAB2 (D476fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GLikely pathogenic
Select item 2611784	NM_001292034.3(TAB2):c.1526C>T (p.Pro509Leu)	LOC126859827, TAB2 (P477L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579971	NM_001292034.3(TAB2):c.1356del (p.Val453fs)	LOC126859827, TAB2 (V421fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2579008	NM_001292034.3(TAB2):c.1385dup (p.Tyr462Ter)	LOC126859827, TAB2 (Y430* +1 more)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 2577979	NM_001292034.3(TAB2):c.308dup (p.Thr104fs)	TAB2 (T104fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2573884	NM_001292034.3(TAB2):c.1392C>G (p.Phe464Leu)	LOC126859827, TAB2 (F432L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572342	NM_001292034.3(TAB2):c.-90+24822_-90+24823del	TAB2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2550589	NM_001292034.3(TAB2):c.625C>A (p.Gln209Lys)	TAB2 (Q177K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2512211	NM_001002255.2(SUMO4):c.99G>T (p.Lys33Asn)	SUMO4, TAB2 (K33N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507282	NM_001292034.3(TAB2):c.2031C>A (p.Asn677Lys)	TAB2 (N645K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506347	NM_001292034.3(TAB2):c.1105dup (p.Ile369fs)	LOC126859827, TAB2 (I337fs +1 more)	Duplication (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic
Select item 2505202	NM_001292034.3(TAB2):c.1572del (p.Ser524fs)	LOC126859827, TAB2 (S492fs +1 more)	Deletion (frameshift variant)	Congenital heart defects, multiple types, 2	GPathogenic

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